Incidental Mutation 'R4300:Or10g6'
| ID |
322378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10g6
|
| Ensembl Gene |
ENSMUSG00000046678 |
| Gene Name |
olfactory receptor family 10 subfamily G member 6 |
| Synonyms |
MOR223-8, GA_x6K02T2PVTD-33720892-33721824, Olfr981 |
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39933691-39934623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39934435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 249
(I249L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059859]
[ENSMUST00000215956]
|
| AlphaFold |
Q8VEU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059859
AA Change: I249L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000057952
Gene: ENSMUSG00000046678
AA Change: I249L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
1.4e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
8.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215956
AA Change: I249L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220338
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
| Other mutations in Or10g6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Or10g6
|
APN |
9 |
39,934,574 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02089:Or10g6
|
APN |
9 |
39,934,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Or10g6
|
UTSW |
9 |
39,934,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1117:Or10g6
|
UTSW |
9 |
39,934,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1781:Or10g6
|
UTSW |
9 |
39,934,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Or10g6
|
UTSW |
9 |
39,934,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1893:Or10g6
|
UTSW |
9 |
39,934,270 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1942:Or10g6
|
UTSW |
9 |
39,934,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Or10g6
|
UTSW |
9 |
39,934,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Or10g6
|
UTSW |
9 |
39,933,985 (GRCm39) |
missense |
probably benign |
|
|
R2000:Or10g6
|
UTSW |
9 |
39,933,985 (GRCm39) |
missense |
probably benign |
|
|
R2173:Or10g6
|
UTSW |
9 |
39,934,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2760:Or10g6
|
UTSW |
9 |
39,933,692 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R4530:Or10g6
|
UTSW |
9 |
39,934,589 (GRCm39) |
missense |
probably benign |
|
|
R4614:Or10g6
|
UTSW |
9 |
39,934,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Or10g6
|
UTSW |
9 |
39,933,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Or10g6
|
UTSW |
9 |
39,933,994 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5017:Or10g6
|
UTSW |
9 |
39,933,672 (GRCm39) |
start gained |
probably benign |
|
|
R5065:Or10g6
|
UTSW |
9 |
39,934,546 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5467:Or10g6
|
UTSW |
9 |
39,933,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5668:Or10g6
|
UTSW |
9 |
39,933,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Or10g6
|
UTSW |
9 |
39,933,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Or10g6
|
UTSW |
9 |
39,933,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Or10g6
|
UTSW |
9 |
39,934,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Or10g6
|
UTSW |
9 |
39,933,896 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Or10g6
|
UTSW |
9 |
39,934,526 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7250:Or10g6
|
UTSW |
9 |
39,934,050 (GRCm39) |
nonsense |
probably null |
|
|
R7273:Or10g6
|
UTSW |
9 |
39,933,961 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8006:Or10g6
|
UTSW |
9 |
39,933,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Or10g6
|
UTSW |
9 |
39,933,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Or10g6
|
UTSW |
9 |
39,934,171 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9497:Or10g6
|
UTSW |
9 |
39,934,616 (GRCm39) |
missense |
probably benign |
|
|
R9733:Or10g6
|
UTSW |
9 |
39,934,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCACCATCAATGAGTTGG -3'
(R):5'- TGCTTGTGTGTATGAAAACCCTG -3'
Sequencing Primer
(F):5'- CAATGAGTTGGTCACCTTTGTAGAC -3'
(R):5'- AAGTCATCAGGGGTGCACCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation